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Protein

Pikachurin

Gene

EGFLAM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Necessary for proper bipolar dendritic tip apposition to the photoreceptor ribbon synapse. Promotes matrix assembly and cell adhesiveness (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Pikachurin
Alternative name(s):
Agrin-like protein
EGF-like, fibronectin type-III and laminin G-like domain-containing protein
Gene namesi
Name:EGFLAM
Synonyms:AGRINL, AGRNL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:26810. EGFLAM.

Subcellular locationi

  • Secretedextracellular spaceextracellular matrix By similarity
  • Cell junctionsynapse By similarity

  • Note: Detected in the synaptic cleft of the ribbon synapse around the postsynaptic terminals of bipolar cells. Colocalizes with BSN, CTBP2 and DAG1 in photoreceptor synaptic terminals.By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Extracellular matrix, Secreted, Synapse

Pathology & Biotechi

Organism-specific databases

DisGeNETi133584.
OpenTargetsiENSG00000164318.
PharmGKBiPA147358056.

Polymorphism and mutation databases

BioMutaiEGFLAM.
DMDMi158705944.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Sequence analysisAdd BLAST24
ChainiPRO_000030680325 – 1017PikachurinAdd BLAST993

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi47N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi347 ↔ 358By similarity
Disulfide bondi352 ↔ 369By similarity
Disulfide bondi371 ↔ 380By similarity
Disulfide bondi534 ↔ 564By similarity
Disulfide bondi569 ↔ 580By similarity
Disulfide bondi574 ↔ 590By similarity
Disulfide bondi592 ↔ 601By similarity
Disulfide bondi788 ↔ 799By similarity
Disulfide bondi793 ↔ 808By similarity
Disulfide bondi810 ↔ 819By similarity
Disulfide bondi987 ↔ 1014By similarity

Post-translational modificationi

O-glycosylated; contains chondroitin sulfate and heparan sulfate.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ63HQ2.
PeptideAtlasiQ63HQ2.
PRIDEiQ63HQ2.

PTM databases

iPTMnetiQ63HQ2.
PhosphoSitePlusiQ63HQ2.

Expressioni

Gene expression databases

BgeeiENSG00000164318.
CleanExiHS_EGFLAM.
ExpressionAtlasiQ63HQ2. baseline and differential.
GenevisibleiQ63HQ2. HS.

Interactioni

Subunit structurei

Interacts with DAG1 alpha-dystroglycan.By similarity

Protein-protein interaction databases

BioGridi126364. 5 interactors.
STRINGi9606.ENSP00000346964.

Structurei

3D structure databases

ProteinModelPortaliQ63HQ2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini37 – 136Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST100
Domaini144 – 239Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST96
Domaini343 – 381EGF-like 1PROSITE-ProRule annotationAdd BLAST39
Domaini386 – 564Laminin G-like 1PROSITE-ProRule annotationAdd BLAST179
Domaini565 – 602EGF-like 2PROSITE-ProRule annotationAdd BLAST38
Domaini609 – 788Laminin G-like 2PROSITE-ProRule annotationAdd BLAST180
Domaini784 – 820EGF-like 3PROSITE-ProRule annotationAdd BLAST37
Domaini835 – 1014Laminin G-like 3PROSITE-ProRule annotationAdd BLAST180

Sequence similaritiesi

Contains 3 EGF-like domains.PROSITE-ProRule annotation
Contains 2 fibronectin type-III domains.PROSITE-ProRule annotation
Contains 3 laminin G-like domains.PROSITE-ProRule annotation

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiKOG0613. Eukaryota.
KOG3509. Eukaryota.
ENOG410XRPX. LUCA.
GeneTreeiENSGT00530000063501.
HOVERGENiHBG107839.
InParanoidiQ63HQ2.
OMAiEIALHTN.
OrthoDBiEOG091G048M.
PhylomeDBiQ63HQ2.
TreeFamiTF326548.

Family and domain databases

CDDicd00063. FN3. 2 hits.
Gene3Di2.60.120.200. 3 hits.
2.60.40.10. 2 hits.
InterProiIPR013320. ConA-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR001791. Laminin_G.
[Graphical view]
PfamiPF00008. EGF. 2 hits.
PF00041. fn3. 2 hits.
PF00054. Laminin_G_1. 2 hits.
PF02210. Laminin_G_2. 1 hit.
[Graphical view]
SMARTiSM00181. EGF. 3 hits.
SM00179. EGF_CA. 2 hits.
SM00060. FN3. 2 hits.
SM00282. LamG. 3 hits.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 1 hit.
SSF49899. SSF49899. 3 hits.
PROSITEiPS00022. EGF_1. 3 hits.
PS01186. EGF_2. 2 hits.
PS50026. EGF_3. 3 hits.
PS50853. FN3. 2 hits.
PS50025. LAM_G_DOMAIN. 3 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q63HQ2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDLIRGVLLR LLLLASSLGP GAVSLRAAIR KPGKVGPPLD IKLGALNCTA
60 70 80 90 100
FSIQWKMPRH PGSPILGYTV FYSEVGADKS LQEQLHSVPL SRDIPTTEEV
110 120 130 140 150
IGDLKPGTEY RVSIAAYSQA GKGRLSSPRH VTTLSQDSCL PPAAPQQPHV
160 170 180 190 200
IVVSDSEVAL SWKPGASEGS APIQYYSVEF IRPDFDKKWT SIHERIQMDS
210 220 230 240 250
MVIKGLDPDT NYQFAVRAMN SHGPSPRSWP SDIIRTLCPE EAGSGRYGPR
260 270 280 290 300
YITDMGAGED DEGFEDDLDL DISFEEVKPL PATKGGNKKF LVESKKMSIS
310 320 330 340 350
NPKTISRLIP PTSASLPVTT VAPQPIPIQR KGKNGVAIMS RLFDMPCDET
360 370 380 390 400
LCSADSFCVN DYTWGGSRCQ CTLGKGGESC SEDIVIQYPQ FFGHSYVTFE
410 420 430 440 450
PLKNSYQAFQ ITLEFRAEAE DGLLLYCGEN EHGRGDFMSL AIIRRSLQFR
460 470 480 490 500
FNCGTGVAII VSETKIKLGG WHTVMLYRDG LNGLLQLNNG TPVTGQSQGQ
510 520 530 540 550
YSKITFRTPL YLGGAPSAYW LVRATGTNRG FQGCVQSLAV NGRRIDMRPW
560 570 580 590 600
PLGKALSGAD VGECSSGICD EASCIHGGTC TAIKADSYIC LCPLGFKGRH
610 620 630 640 650
CEDAFTLTIP QFRESLRSYA ATPWPLEPQH YLSFMEFEIT FRPDSGDGVL
660 670 680 690 700
LYSYDTGSKD FLSINLAGGH VEFRFDCGSG TGVLRSEDPL TLGNWHELRV
710 720 730 740 750
SRTAKNGILQ VDKQKIVEGM AEGGFTQIKC NTDIFIGGVP NYDDVKKNSG
760 770 780 790 800
VLKPFSGSIQ KIILNDRTIH VKHDFTSGVN VENAAHPCVR APCAHGGSCR
810 820 830 840 850
PRKEGYDCDC PLGFEGLHCQ KECGNYCLNT IIEAIEIPQF IGRSYLTYDN
860 870 880 890 900
PDILKRVSGS RSNVFMRFKT TAKDGLLLWR GDSPMRPNSD FISLGLRDGA
910 920 930 940 950
LVFSYNLGSG VASIMVNGSF NDGRWHRVKA VRDGQSGKIT VDDYGARTGK
960 970 980 990 1000
SPGMMRQLNI NGALYVGGMK EIALHTNRQY MRGLVGCISH FTLSTDYHIS
1010
LVEDAVDGKN INTCGAK
Length:1,017
Mass (Da):111,271
Last modified:October 2, 2007 - v2
Checksum:iAF251212507A57EB
GO
Isoform 2 (identifier: Q63HQ2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     822-830: ECGNYCLNT → A

Show »
Length:1,009
Mass (Da):110,344
Checksum:i0F2EC9C7EE261ACD
GO
Isoform 3 (identifier: Q63HQ2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-634: Missing.
     822-830: ECGNYCLNT → A

Show »
Length:375
Mass (Da):41,072
Checksum:i4003CD994EC02E45
GO
Isoform 4 (identifier: Q63HQ2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-234: Missing.
     235-238: RTLC → MHPG
     822-830: ECGNYCLNT → A

Show »
Length:775
Mass (Da):84,800
Checksum:i61A81294F0204ED2
GO
Isoform 5 (identifier: Q63HQ2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-865: Missing.

Show »
Length:152
Mass (Da):16,588
Checksum:i628A79CBD877DB87
GO

Sequence cautioni

The sequence BAC04800 differs from that shown. Unlikely isoform. Aberrant splice sites.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti546D → G in CAH56137 (PubMed:17974005).Curated1
Sequence conflicti602E → G in CAH56137 (PubMed:17974005).Curated1
Sequence conflicti641F → L in BAF84291 (PubMed:14702039).Curated1
Sequence conflicti775F → L in CAH56137 (PubMed:17974005).Curated1
Sequence conflicti1005A → S in AAH33177 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05571826R → P.Corresponds to variant rs12522205dbSNPEnsembl.1
Natural variantiVAR_035302111R → H.Corresponds to variant rs2561111dbSNPEnsembl.1
Natural variantiVAR_035303229W → R.Corresponds to variant rs1465567dbSNPEnsembl.1
Natural variantiVAR_035304473T → M.1 PublicationCorresponds to variant rs16903965dbSNPEnsembl.1
Natural variantiVAR_035305576H → N.Corresponds to variant rs6897179dbSNPEnsembl.1
Natural variantiVAR_055719745V → M.Corresponds to variant rs2561818dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0284751 – 865Missing in isoform 5. 2 PublicationsAdd BLAST865
Alternative sequenceiVSP_0284761 – 634Missing in isoform 3. 1 PublicationAdd BLAST634
Alternative sequenceiVSP_0284771 – 234Missing in isoform 4. 1 PublicationAdd BLAST234
Alternative sequenceiVSP_028478235 – 238RTLC → MHPG in isoform 4. 1 Publication4
Alternative sequenceiVSP_028481822 – 830ECGNYCLNT → A in isoform 2, isoform 3 and isoform 4. 2 Publications9

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK092479 mRNA. Translation: BAC03900.1.
AK092994 mRNA. Translation: BAC04013.1.
AK096474 mRNA. Translation: BAC04800.1. Sequence problems.
AK097549 mRNA. Translation: BAC05096.1.
AK291602 mRNA. Translation: BAF84291.1.
BX647551 mRNA. Translation: CAH56137.1.
AC010338 Genomic DNA. No translation available.
AC010457 Genomic DNA. No translation available.
AC091839 Genomic DNA. No translation available.
CH471119 Genomic DNA. Translation: EAW55968.1.
BC031251 mRNA. Translation: AAH31251.1.
BC033177 mRNA. Translation: AAH33177.1.
BC033188 mRNA. Translation: AAH33188.1.
BC063822 mRNA. Translation: AAH63822.1.
CCDSiCCDS3924.1. [Q63HQ2-2]
CCDS3925.1. [Q63HQ2-4]
CCDS47199.1. [Q63HQ2-5]
CCDS56363.1. [Q63HQ2-1]
RefSeqiNP_001192230.1. NM_001205301.1. [Q63HQ2-1]
NP_689616.2. NM_152403.3. [Q63HQ2-2]
NP_877950.1. NM_182798.2. [Q63HQ2-4]
NP_877953.1. NM_182801.2. [Q63HQ2-5]
UniGeneiHs.20103.

Genome annotation databases

EnsembliENST00000322350; ENSP00000313084; ENSG00000164318. [Q63HQ2-2]
ENST00000336740; ENSP00000337607; ENSG00000164318. [Q63HQ2-4]
ENST00000354891; ENSP00000346964; ENSG00000164318. [Q63HQ2-1]
ENST00000397202; ENSP00000380385; ENSG00000164318. [Q63HQ2-3]
ENST00000397210; ENSP00000380393; ENSG00000164318. [Q63HQ2-5]
ENST00000506135; ENSP00000425579; ENSG00000164318. [Q63HQ2-5]
ENST00000514476; ENSP00000423228; ENSG00000164318. [Q63HQ2-5]
GeneIDi133584.
KEGGihsa:133584.
UCSCiuc003jlb.3. human. [Q63HQ2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK092479 mRNA. Translation: BAC03900.1.
AK092994 mRNA. Translation: BAC04013.1.
AK096474 mRNA. Translation: BAC04800.1. Sequence problems.
AK097549 mRNA. Translation: BAC05096.1.
AK291602 mRNA. Translation: BAF84291.1.
BX647551 mRNA. Translation: CAH56137.1.
AC010338 Genomic DNA. No translation available.
AC010457 Genomic DNA. No translation available.
AC091839 Genomic DNA. No translation available.
CH471119 Genomic DNA. Translation: EAW55968.1.
BC031251 mRNA. Translation: AAH31251.1.
BC033177 mRNA. Translation: AAH33177.1.
BC033188 mRNA. Translation: AAH33188.1.
BC063822 mRNA. Translation: AAH63822.1.
CCDSiCCDS3924.1. [Q63HQ2-2]
CCDS3925.1. [Q63HQ2-4]
CCDS47199.1. [Q63HQ2-5]
CCDS56363.1. [Q63HQ2-1]
RefSeqiNP_001192230.1. NM_001205301.1. [Q63HQ2-1]
NP_689616.2. NM_152403.3. [Q63HQ2-2]
NP_877950.1. NM_182798.2. [Q63HQ2-4]
NP_877953.1. NM_182801.2. [Q63HQ2-5]
UniGeneiHs.20103.

3D structure databases

ProteinModelPortaliQ63HQ2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126364. 5 interactors.
STRINGi9606.ENSP00000346964.

PTM databases

iPTMnetiQ63HQ2.
PhosphoSitePlusiQ63HQ2.

Polymorphism and mutation databases

BioMutaiEGFLAM.
DMDMi158705944.

Proteomic databases

PaxDbiQ63HQ2.
PeptideAtlasiQ63HQ2.
PRIDEiQ63HQ2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322350; ENSP00000313084; ENSG00000164318. [Q63HQ2-2]
ENST00000336740; ENSP00000337607; ENSG00000164318. [Q63HQ2-4]
ENST00000354891; ENSP00000346964; ENSG00000164318. [Q63HQ2-1]
ENST00000397202; ENSP00000380385; ENSG00000164318. [Q63HQ2-3]
ENST00000397210; ENSP00000380393; ENSG00000164318. [Q63HQ2-5]
ENST00000506135; ENSP00000425579; ENSG00000164318. [Q63HQ2-5]
ENST00000514476; ENSP00000423228; ENSG00000164318. [Q63HQ2-5]
GeneIDi133584.
KEGGihsa:133584.
UCSCiuc003jlb.3. human. [Q63HQ2-1]

Organism-specific databases

CTDi133584.
DisGeNETi133584.
GeneCardsiEGFLAM.
HGNCiHGNC:26810. EGFLAM.
neXtProtiNX_Q63HQ2.
OpenTargetsiENSG00000164318.
PharmGKBiPA147358056.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0613. Eukaryota.
KOG3509. Eukaryota.
ENOG410XRPX. LUCA.
GeneTreeiENSGT00530000063501.
HOVERGENiHBG107839.
InParanoidiQ63HQ2.
OMAiEIALHTN.
OrthoDBiEOG091G048M.
PhylomeDBiQ63HQ2.
TreeFamiTF326548.

Miscellaneous databases

ChiTaRSiEGFLAM. human.
GeneWikiiPikachurin.
GenomeRNAii133584.
PROiQ63HQ2.

Gene expression databases

BgeeiENSG00000164318.
CleanExiHS_EGFLAM.
ExpressionAtlasiQ63HQ2. baseline and differential.
GenevisibleiQ63HQ2. HS.

Family and domain databases

CDDicd00063. FN3. 2 hits.
Gene3Di2.60.120.200. 3 hits.
2.60.40.10. 2 hits.
InterProiIPR013320. ConA-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR001791. Laminin_G.
[Graphical view]
PfamiPF00008. EGF. 2 hits.
PF00041. fn3. 2 hits.
PF00054. Laminin_G_1. 2 hits.
PF02210. Laminin_G_2. 1 hit.
[Graphical view]
SMARTiSM00181. EGF. 3 hits.
SM00179. EGF_CA. 2 hits.
SM00060. FN3. 2 hits.
SM00282. LamG. 3 hits.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 1 hit.
SSF49899. SSF49899. 3 hits.
PROSITEiPS00022. EGF_1. 3 hits.
PS01186. EGF_2. 2 hits.
PS50026. EGF_3. 3 hits.
PS50853. FN3. 2 hits.
PS50025. LAM_G_DOMAIN. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiEGFLA_HUMAN
AccessioniPrimary (citable) accession number: Q63HQ2
Secondary accession number(s): A8K6D7
, Q5U643, Q6P3V1, Q8N124, Q8N197, Q8N7Y0, Q8N8N5, Q8NAL2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 2, 2007
Last modified: November 30, 2016
This is version 119 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.